{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395134327",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.1027C>G (p.Gln343Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23646840G>C?assembly=hg19",
        "id": "chr16:g.23646840G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23635519G>C?assembly=hg38",
        "id": "chr16:g.23635519G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/180177097",
        "rs": 180177097
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 23635519,
          "referenceAllele": "G",
          "start": 23635518
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23635519G>C",
        "CM000678.2:g.23635519G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 23646840,
          "referenceAllele": "G",
          "start": 23646839
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23646840G>C",
        "CM000678.1:g.23646840G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 23554341,
          "referenceAllele": "G",
          "start": 23554340
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23554341G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10839,
          "referenceAllele": "C",
          "start": 10838
        }
      ],
      "hgvs": [
        "NG_007406.1:g.10839C>G",
        "LRG_308:g.10839C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Gln345Glu",
        "hgvsWellDefined": "ENSP00000460666.3:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 2331,
          "referenceAllele": "C",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.211+2331C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:n.211+2331C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.1027C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Gln343Glu",
        "hgvsWellDefined": "ENSP00000459237.2:p.Gln343Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Gln345Glu",
        "hgvsWellDefined": "ENSP00000513286.2:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Gln345Glu",
        "hgvsWellDefined": "ENSP00000513287.2:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:p.Gln48Glu",
        "hgvsWellDefined": "ENSP00000460666.2:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:p.Gln48Glu",
        "hgvsWellDefined": "ENSP00000513284.1:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2374,
          "referenceAllele": "C",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.2374C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:p.Gln48Glu",
        "hgvsWellDefined": "ENSP00000513285.1:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:p.Gln48Glu",
        "hgvsWellDefined": "ENSP00000513286.1:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.1547C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:p.Gln48Glu",
        "hgvsWellDefined": "ENSP00000513287.1:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2055,
          "referenceAllele": "C",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:p.Gln48Glu",
        "hgvsWellDefined": "ENSP00000513288.1:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 5591,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 5590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.48+5591C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.48+5591C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697384.1:n.1181C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.1027C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Gln343Glu",
        "hgvsWellDefined": "ENSP00000261584.4:p.Gln343Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.1027C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.1027C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Gln343Glu"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Gln343Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.1027C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Gln343Glu",
        "hgvsWellDefined": "ENSP00000261584.4:p.Gln343Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 2331,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.86+2331C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:p.Gln48Glu",
        "hgvsWellDefined": "ENSP00000454703.2:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082850726",
      "coordinates": [
        {
          "allele": "G",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.1027C>G",
        "LRG_308t1:c.1027C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Gln343Glu",
        "hgvsWellDefined": "NP_078951.2:p.Gln343Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Gln345Glu",
        "hgvsWellDefined": "XP_011544248.1:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1823,
          "referenceAllele": "C",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Gln345Glu",
        "hgvsWellDefined": "XP_011544249.1:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Gln48Glu",
        "hgvsWellDefined": "XP_011544250.1:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1823,
          "referenceAllele": "C",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.1823C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Gln345Glu",
        "hgvsWellDefined": "XP_011544248.1:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Gln345Glu",
        "hgvsWellDefined": "XP_011544249.1:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.142C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:p.Gln48Glu",
        "hgvsWellDefined": "XP_011544250.1:p.Gln48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.1033C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Gln345Glu",
        "hgvsWellDefined": "XP_016879160.1:p.Gln345Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.1027C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Gln343Glu",
        "hgvsWellDefined": "XP_016879161.1:p.Gln343Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.1027C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Gln343Glu",
        "hgvsWellDefined": "XP_016879162.1:p.Gln343Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082850726",
      "coordinates": [
        {
          "allele": "G",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.1027C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Gln343Glu",
        "hgvsWellDefined": "NP_078951.2:p.Gln343Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.1027C>G"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.1027C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Gln343Glu"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Gln343Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}